Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.T262S
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KCNJ10

NM_002241.5:p.T262S

Associated Papers

Emerging Roles of Astrocyte Kir4.1 Channels in the Pathogenesis and Treatment of Brain Diseases.

Ohno Y et al.

International Journal of Molecular Sciences, 2021

Role of Astrocytic Inwardly Rectifying Potassium (Kir) 4.1 Channels in Epileptogenesis.

Kinboshi M et al.

Frontiers in Neurology, 2020

The role of glial-specific Kir4.1 in normal and pathological states of the CNS.

Nwaobi SE et al.

Acta Neuropathologica, 2016

Contribution of KCNJ10 gene polymorphisms in childhood epilepsy.

Dai AI et al.

Journal of Child Neurology, 2015

Common variants of KCNJ10 are associated with susceptibility and anti-epileptic drug resistance in Chinese genetic generalized epilepsies.

Guo Y et al.

Plos One, 2015

Genetic association of KCNJ10 rs1130183 with seizure susceptibility and computational analysis of deleterious non-synonymous SNPs of KCNJ10 gene.

Phani NM et al.

Gene, 2014

K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.

D'Adamo MC et al.

Frontiers in Cellular Neuroscience, 2013

Potassium channel activity and glutamate uptake are impaired in astrocytes of seizure-susceptible DBA/2 mice.

Inyushin M et al.

Epilepsia, 2010

Inwardly rectifying potassium channels: their structure, function, and physiological roles.

Hibino H et al.

Physiological Reviews, 2010

Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.

Shang L et al.

Brain Research. Molecular Brain Research, 2005

Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a.

Bergren SK et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2005

Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy.

Lenzen KP et al.

Epilepsy Research, 2005

Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility.

Buono RJ et al.

Epilepsy Research, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."